| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.27658369C>T | CA127325 | BDNF,BDNF-AS | c.196G>A (p.Val66Met) c.220G>A (p.Val74Met) c.241G>A (p.Val81Met) c.442G>A (p.Val148Met) c.*325G>A (n.*325G>A) n.554G>A c.283G>A (p.Val95Met) n.503C>T n.434C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.27658369C= | CA1630848650 | BDNF,BDNF-AS | c.196G= (p.Val66=) c.220G= (p.Val74=) c.241G= (p.Val81=) c.442G= (p.Val148=) c.*325G= (n.*325G=) n.554G= c.283G= (p.Val95=) n.503C= n.434C= | dbSNP |
| 11 | g.27658369C>G | CA380074609 | BDNF,BDNF-AS | c.196G>C (p.Val66Leu) c.220G>C (p.Val74Leu) c.241G>C (p.Val81Leu) c.442G>C (p.Val148Leu) c.*325G>C (n.*325G>C) n.554G>C c.283G>C (p.Val95Leu) n.503C>G n.434C>G | dbSNP |
| 11 | g.27658369C>A | CA380074608 | BDNF,BDNF-AS | c.196G>T (p.Val66Leu) c.220G>T (p.Val74Leu) c.241G>T (p.Val81Leu) c.442G>T (p.Val148Leu) c.*325G>T (n.*325G>T) n.554G>T c.283G>T (p.Val95Leu) n.503C>A n.434C>A | dbSNP |